Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Synonyms
LAM, KIAA0243, hamartin, TSC
Location
Chromosome 9: 132,891,348-132,944,633 reverse strand.
GRCh38:CM000671.2
About this gene
This gene has 8 transcripts (splice variants), 89 orthologues, is a member of 1 Ensembl protein family and is associated with 47 phenotypes.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| TSC1-201 | ENST00000298552.7 | 8604 | 1164aa | ENSP00000298552 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS6956 | Q92574 X5D9D2 | NM_000368 NM_001162426 NM_001162427 NP_000359 NP_001155898 NP_001155899 | <p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic<p>PRINCIPAL1 - APPRIS candidate principal isoform.</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS P1 |
| TSC1-203 | ENST00000440111.6 | 8463 | 1164aa | ENSP00000394524 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS6956 | Q92574 X5D9D2 | - | <p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic<p>PRINCIPAL1 - APPRIS candidate principal isoform.</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS P1 |
| TSC1-208 | ENST00000545250.5 | 8310 | 1113aa | ENSP00000444017 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS55350 | Q92574 | - | <p>Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:5The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic |
| TSC1-202 | ENST00000403810.5 | 1507 | 366aa | ENSP00000386093 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | Q86WV8 | - | <p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic |
| TSC1-205 | ENST00000475903.5 | 820 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | - | <p>Transcript Support Level 4, for transcripts supported by an EST flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:4 |
| TSC1-206 | ENST00000490179.2 | 681 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | - | <p>Transcript Support Level 3, when transcripts are supported by a single EST only.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:3 |
| TSC1-204 | ENST00000461879.5 | 492 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | - | <p>Transcript Support Level 3, when transcripts are supported by a single EST only.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:3 |
| TSC1-207 | ENST00000493467.5 | 2219 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | - | <p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1 |
